Canonical Allele Identifier: CA047019

Gene: APC

Linked Data

• ClinVar Variation Id: 231537
• ClinVar RCV Id: RCV003534521 ; RCV000218412
• dbSNP Id: rs762167924
• ExAC: 5:112178419 G / C
• gnomAD v2: 5-112178419-G-C
• gnomAD v4: 5-112842722-G-C
• MyVariant Identifiers: chr5:g.112178419G>C (hg19) ; chr5:g.112178419_112178434delinsCAACCTTACCAAACAA (hg19) ; chr5:g.112842722G>C (hg38) ; chr5:g.112842722_112842737delinsCAACCTTACCAAACAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112842722G>C , CM000667.2:g.112842722G>C	GRCh38
NC_000005.9:g.112178419G>C , CM000667.1:g.112178419G>C	GRCh37
NC_000005.8:g.112206318G>C	NCBI36
NG_008481.4:g.155202G>C , LRG_130:g.155202G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7182G>C	ENSP00000473355.2:p.Gln2394His
ENST00000505350.2:c.*7134G>C	ENSP00000481752.1:n.*7134G>C
ENST00000507379.6:c.7074G>C	ENSP00000423224.2:p.Gln2358His
ENST00000509732.6:c.7128G>C	ENSP00000426541.2:p.Gln2376His
ENST00000512211.7:c.7128G>C	ENSP00000423828.3:p.Gln2376His
ENST00000257430.9:c.7128G>C MANE Select	ENSP00000257430.4:p.Gln2376His
ENST00000257430.8:c.7128G>C	ENSP00000257430.4:p.Gln2376His
ENST00000508376.6:c.7128G>C	ENSP00000427089.2:p.Gln2376His
ENST00000508624.5:c.*6450G>C	ENSP00000424265.1:n.*6450G>C
ENST00000520401.1:c.230+13750G>C
NM_000038.5:c.7128G>C	NP_000029.2:p.Gln2376His
NM_001127510.2:c.7128G>C	NP_001120982.1:p.Gln2376His
NM_001127511.2:c.7074G>C	NP_001120983.2:p.Gln2358His
NM_001354895.1:c.7128G>C	NP_001341824.1:p.Gln2376His
NM_001354896.1:c.7182G>C	NP_001341825.1:p.Gln2394His
NM_001354897.1:c.7158G>C	NP_001341826.1:p.Gln2386His
NM_001354898.1:c.7053G>C	NP_001341827.1:p.Gln2351His
NM_001354899.1:c.7044G>C	NP_001341828.1:p.Gln2348His
NM_001354900.1:c.7005G>C	NP_001341829.1:p.Gln2335His
NM_001354901.1:c.6951G>C	NP_001341830.1:p.Gln2317His
NM_001354902.1:c.6855G>C	NP_001341831.1:p.Gln2285His
NM_001354903.1:c.6825G>C	NP_001341832.1:p.Gln2275His
NM_001354904.1:c.6750G>C	NP_001341833.1:p.Gln2250His
NM_001354905.1:c.6648G>C	NP_001341834.1:p.Gln2216His
NM_001354906.1:c.6279G>C	NP_001341835.1:p.Gln2093His
NM_000038.6:c.7128G>C MANE Select	NP_000029.2:p.Gln2376His
NM_001127510.3:c.7128G>C	NP_001120982.1:p.Gln2376His
NM_001127511.3:c.7074G>C	NP_001120983.2:p.Gln2358His
NM_001354895.2:c.7128G>C	NP_001341824.1:p.Gln2376His
NM_001354896.2:c.7182G>C	NP_001341825.1:p.Gln2394His
NM_001354897.2:c.7158G>C	NP_001341826.1:p.Gln2386His
NM_001354898.2:c.7053G>C	NP_001341827.1:p.Gln2351His
NM_001354899.2:c.7044G>C	NP_001341828.1:p.Gln2348His
NM_001354900.2:c.7005G>C	NP_001341829.1:p.Gln2335His
NM_001354901.2:c.6951G>C	NP_001341830.1:p.Gln2317His
NM_001354902.2:c.6855G>C	NP_001341831.1:p.Gln2285His
NM_001354903.2:c.6825G>C	NP_001341832.1:p.Gln2275His
NM_001354904.2:c.6750G>C	NP_001341833.1:p.Gln2250His
NM_001354905.2:c.6648G>C	NP_001341834.1:p.Gln2216His
NM_001354906.2:c.6279G>C	NP_001341835.1:p.Gln2093His